A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
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DOI: 10.1016/j.pedneo.2014.05.008
Abstract: Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective tissue… read more here.
Keywords: point mutation; disease; novo point; menkes disease ... See more keywords